Volume 34 Number 22 June 4-11, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.
El Malti R et al. Eur. J. Hum. Genet. 2015 May 27.
El Malti R et al. Eur. J. Hum. Genet. 2015 May 27.
A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status.
Noke M et al. Eur. J. Hum. Genet. 2015 May 27.
Noke M et al. Eur. J. Hum. Genet. 2015 May 27.
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
Zerjav TM et al. Orphanet J Rare Dis 2015 10(1) 68
Zerjav TM et al. Orphanet J Rare Dis 2015 10(1) 68
The Swiss National Registry for Primary Immunodeficiencies: Report on the first 6 years' activity 2008-2014.
Marschall K et al. Clin. Exp. Immunol. 2015 Jun 1.
Marschall K et al. Clin. Exp. Immunol. 2015 Jun 1.
Cancer
A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects.
Jervis S et al. J. Med. Genet. 2015 May 29.
Jervis S et al. J. Med. Genet. 2015 May 29.
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.
Golmard L et al. Oncogene 2015 Jun 1.
Golmard L et al. Oncogene 2015 Jun 1.
Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya.
Hill JA et al. PLoS ONE 10(6) e0129852
Hill JA et al. PLoS ONE 10(6) e0129852
Combining three antibodies nullifies feedback-mediated resistance to erlotinib in lung cancer
Maicol Mancini, et al. Sci. Signal., 2 June 2015
Maicol Mancini, et al. Sci. Signal., 2 June 2015
Descriptive analysis of endoscopic findings in patients with a family history of colorectal cancer.
Álvarez-Cuenllas B et al. Rev Gastroenterol Mex 2015 May 25.
Álvarez-Cuenllas B et al. Rev Gastroenterol Mex 2015 May 25.
Gene-panel sequencing and the prediction of breast-cancer risk.
Easton DF et al. N. Engl. J. Med. 2015 May 27.
Easton DF et al. N. Engl. J. Med. 2015 May 27.
Genomic profiling: Building a continuum from knowledge to care
Chen HX, et al. JAMA Oncol. 2015 May 28
Chen HX, et al. JAMA Oncol. 2015 May 28
HBOC multi-gene panel testing: comparison of two sequencing centers.
Schroeder C et al. Breast Cancer Res. Treat. 2015 May 29.
Schroeder C et al. Breast Cancer Res. Treat. 2015 May 29.
Head-to-head comparison and evaluation of 92 plasma protein biomarkers for early detection of colorectal cancer in a true screening setting.
Chen H et al. Clin. Cancer Res. 2015 May 26.
Chen H et al. Clin. Cancer Res. 2015 May 26.
Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation.
Benusiglio PR et al. J. Med. Genet. 2015 May 29.
Benusiglio PR et al. J. Med. Genet. 2015 May 29.
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.
Pölsler L et al. Eur. J. Hum. Genet. 2015 May 27.
Pölsler L et al. Eur. J. Hum. Genet. 2015 May 27.
Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.
Frolova AI et al. Gynecol. Oncol. 2015 Apr 137(1) 7-13
Frolova AI et al. Gynecol. Oncol. 2015 Apr 137(1) 7-13
Multi-institutional external validation of urinary TWIST1 and NID2 methylation as a diagnostic test for bladder cancer.
Fantony JJ et al. Urol. Oncol. 2015 May 28.
Fantony JJ et al. Urol. Oncol. 2015 May 28.
PD-1 blockade in tumors with mismatch-repair deficiency.
Le Dung T et al. N. Engl. J. Med. 2015 May 30.
Le Dung T et al. N. Engl. J. Med. 2015 May 30.
The clinical utility of a novel blood-based multi-transcriptome assay for the diagnosis of neuroendocrine tumors of the gastrointestinal tract.
Modlin IM et al. Am. J. Gastroenterol. 2015 Jun 2.
Modlin IM et al. Am. J. Gastroenterol. 2015 Jun 2.
The cost-effectiveness of routine testing for Lynch syndrome in newly diagnosed patients with colorectal cancer in the United States: corrected estimates.
Grosse SD et al. Genet. Med. 2015 Jun 17(6) 510-511
Grosse SD et al. Genet. Med. 2015 Jun 17(6) 510-511
The impact of genomic testing on the recommendation for radiation therapy in patients with ductal carcinoma in situ: A prospective clinical utility assessment of the 12-gene DCIS score™ result.
Alvarado M et al. J Surg Oncol 2015 May 28.
Alvarado M et al. J Surg Oncol 2015 May 28.
Use of whole genome sequencing for diagnosis and discovery in the cancer genetics clinic.
Foley SB et al. EBioMedicine 2015 Jan 2(1) 74-81
Foley SB et al. EBioMedicine 2015 Jan 2(1) 74-81
Whole-exome sequencing of metastatic cancer and biomarkers of treatment response
Beltran H, et al. JAMA Oncol. 2015 May 28
Beltran H, et al. JAMA Oncol. 2015 May 28
Willingness of Japanese patients with breast cancer to have genetic testing of BRCA without burden of expenses.
Nakagomi H et al. Breast Cancer 2015 May 30.
Nakagomi H et al. Breast Cancer 2015 May 30.
Chronic Diseases
Aging, practice effects, and genetic risk in the Wisconsin Registry for Alzheimer's Prevention.
Jonaitis Erin M et al. Clin Neuropsychol 2015 May 27. 1-16
Jonaitis Erin M et al. Clin Neuropsychol 2015 May 27. 1-16
Assessment of the HNF1B score as a tool to select patients for HNF1B genetic testing.
Clissold R et al. Nephron 2015 May 22.
Clissold R et al. Nephron 2015 May 22.
Daily life, experience and needs of persons suffering from homozygous familial hypercholesterolaemia: insights from a patient survey.
Bruckert E et al. Atheroscler Suppl 2014 Sep 15(2) 46-51
Bruckert E et al. Atheroscler Suppl 2014 Sep 15(2) 46-51
[Familial hypercholesterolemia: why screening, counselling and treatment should be integrated].
Roeters van Lennep JE et al. Ned Tijdschr Geneeskd 2015 159(0) A8875
Roeters van Lennep JE et al. Ned Tijdschr Geneeskd 2015 159(0) A8875
Heritability of amyotrophic lateral sclerosis: Insights from disparate numbers.
McLaughlin RL et al. JAMA Neurol 2015 Jun 1.
McLaughlin RL et al. JAMA Neurol 2015 Jun 1.
Long-term evaluation of a historical cohort of Iranian common variable immunodeficiency patients.
Aghamohammadi A et al. Expert Rev Clin Immunol 2014 Oct 10(10) 1405-17
Aghamohammadi A et al. Expert Rev Clin Immunol 2014 Oct 10(10) 1405-17
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
Medeiros AM et al. Genet. Med. 2015 May 28.
Medeiros AM et al. Genet. Med. 2015 May 28.
Neurogenetics in Peru: clinical, scientific and ethical perspectives.
Cornejo-Olivas M et al. J Community Genet 2015 May 27.
Cornejo-Olivas M et al. J Community Genet 2015 May 27.
Ethics, Policy and Law
Ethical and policy issues in newborn screening of children for neurologic and developmental disorders.
Ross LF et al. Pediatr. Clin. North Am. 2015 Jun 62(3) 787-798
Ross LF et al. Pediatr. Clin. North Am. 2015 Jun 62(3) 787-798
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Larrandaburu M et al. J Community Genet 2015 May 29.
Larrandaburu M et al. J Community Genet 2015 May 29.
The FDA and genetic testing.
Litwack ED et al. N. Engl. J. Med. 2015 May 27.
Litwack ED et al. N. Engl. J. Med. 2015 May 27.
The FDA and genomic tests - getting regulation right.
Evans BJ et al. N. Engl. J. Med. 2015 May 27.
Evans BJ et al. N. Engl. J. Med. 2015 May 27.
Genomics in Practice
A public health perspective on a National Precision Medicine Cohort: Balancing long-term knowledge generation with early health benefit.
Khoury MJ et al. JAMA 2015 Jun 2. 313(21) 2117-2118 (CDC Author)
Khoury MJ et al. JAMA 2015 Jun 2. 313(21) 2117-2118 (CDC Author)
ClinGen - The clinical genome resource.
Rehm HL et al. N. Engl. J. Med. 2015 May 27.
Rehm HL et al. N. Engl. J. Med. 2015 May 27.
Curating the way to better determinants of genetic risk.
Phimister EG et al. N. Engl. J. Med. 2015 May 27.
Phimister EG et al. N. Engl. J. Med. 2015 May 27.
Genetic counsellors in Sweden: their role and added value in the clinical setting.
Pestoff R et al. Eur. J. Hum. Genet. 2015 May 27.
Pestoff R et al. Eur. J. Hum. Genet. 2015 May 27.
Global implementation of genomic medicine: We are not alone
Manolio TA, et al. Sci Transl Med 3 June 2015: Vol. 7, Issue 290, p. 290ps13
Manolio TA, et al. Sci Transl Med 3 June 2015: Vol. 7, Issue 290, p. 290ps13
Medical genetics and genomic medicine in India: current status and opportunities ahead.
Aggarwal S et al. Mol Genet Genomic Med 2015 May 3(3) 160-71
Aggarwal S et al. Mol Genet Genomic Med 2015 May 3(3) 160-71
Measuring genetic knowledge: A brief survey instrument for adolescents and adults.
Fitzgerald-Butt SM et al. Clin. Genet. 2015 May 29.
Fitzgerald-Butt SM et al. Clin. Genet. 2015 May 29.
Perspectives on what is needed to implement genomic medicine.
Williams MS et al. Mol Genet Genomic Med 2015 May 3(3) 155-9
Williams MS et al. Mol Genet Genomic Med 2015 May 3(3) 155-9
Precision medicine - personalized, problematic, and promising.
Jameson JL et al. N. Engl. J. Med. 2015 May 27.
Jameson JL et al. N. Engl. J. Med. 2015 May 27.
Towards a European consensus for reporting incidental findings during clinical NGS testing
Jayne Y Hehir-Kwa, et al. European Journal of Human Genetics 2015 Jun 3
Jayne Y Hehir-Kwa, et al. European Journal of Human Genetics 2015 Jun 3
Pharmacogenomics
Pharmacogenomic and pharmacogenetic-guided therapy as a tool in precision medicine: current state and factors impacting acceptance by stakeholders.
Hess GP et al. Genet Res (Camb) 2015 97e13
Hess GP et al. Genet Res (Camb) 2015 97e13
The pharmacogenomics of vincristine-induced neuropathy: On pins and needles
Berg SL, et al. JAMA Oncol. 2015 May 28
Berg SL, et al. JAMA Oncol. 2015 May 28
Reproductive Health
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.
Godino L et al. Eur. J. Hum. Genet. 2015 May 27.
Godino L et al. Eur. J. Hum. Genet. 2015 May 27.
Detection of fetal copy number variations by noninvasive prenatal testing for common aneuploidies.
Li R et al. Ultrasound Obstet Gynecol 2015 May 29.
Li R et al. Ultrasound Obstet Gynecol 2015 May 29.
Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center.
Neufeld-Kaiser WA et al. BMC Med 2015 Jun 2. 13(1) 129
Neufeld-Kaiser WA et al. BMC Med 2015 Jun 2. 13(1) 129
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet A et al. Eur. J. Hum. Genet. 2015 May 27.
Girardet A et al. Eur. J. Hum. Genet. 2015 May 27.
Reviews, News and Commentaries
Brave new genome
Lander ES NEJM 2015 Jun 3
Lander ES NEJM 2015 Jun 3
A virtuous cycle - using evidence to improve genetic testing, by Dr Sobia Raza & Dr Sowmiya Moorthie, PHG Foundation, June 3
by Dr Sobia Raza & Dr Sowmiya Moorthie, PHG Foundation, June 3Clinical sequencing data sharing is essential, by Dan Koboldt, Mass Genomics, June 3
by Dan Koboldt, Mass Genomics, June 3CRISPR, the disruptor, by Heidi Ledford, Nature News, June 3
by Heidi Ledford, Nature News, June 3Data's data from intelligence to genomic data, Genome Web, Jun 2 [by free subscription only]
Genome Web, Jun 2 [by free subscription only]Scientists discover topical insights into the effects of sun exposure on skin, by Julie Coursen, NIH News, June 2
by Julie Coursen, NIH News, June 2Heritability: a handy guide to what it means, what it doesn?t mean, and that giant meta-analysis of twin studies, by Jonathan M. Kaplan, Scientia Salon, June 1
by Jonathan M. Kaplan, Scientia Salon, June 1Mammary gland may have epigenetic memory, NIH Research Matters, June 1
NIH Research Matters, June 1
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